6p24.1-p22.3CNV Type: Deletion
Largest CNV size: 8800000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
A deletion in this region contains the ATXN1 gene and was identified in a male patient with a diagnosis of sensory processing disorder with developmental dyspraxia.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Deletion
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
baroy_13_ID/ASD_discovery_cases
Five unrelated patients with variable degree of cognitive impairment ranging from borderline IQ to severe intellectual disability (University of Olso/Olso University Hospital, Norway).
5
Intellectual disability (ID) in four cases (borderline IQ in one case); one case (patient 3) with additional diagnosis of ASD (based on ADOS evaluation).
Range, 4-17 yrs.
40% Male
4800000
1
0
1
celestino-soper_12_DD/CHD_discovery_cases
Subjects from databases of Baylor College of Medicine-Medical Genetics Laboratories (MGL) and Signature Genomic Laboratories (SGL) diagnostic laboratories
5
Four patients with developmental delay (DD), one with congenital heart defects (CHD)
Range, 1 mo.-17 yrs.
60.0% Male
8800000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
9032897
0
1
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
6640000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
baroy_13_ID/ASD_discovery_cases
Norwegian (n=3), Norwegian/English (n=1), Lebanese (n=1)
aCGH
Agilent 4x44K, 2x105A, 4x180K or 244A
Feature Extraction, DNA Analytics v4.0.76
qPCR
celestino-soper_12_DD/CHD_discovery_cases
NA
aCGH
Agilent OLIGO custom clinical microarrays versions 7.4 OLIGO, 6.3 OLIGO, 6.4 OLIGO, 8.0 OLIGO, Agilent 105 K-feature SignatureChip Oligo Solution whole-genome custom microarray
FISH
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
baroy_13_ID/ASD_discovery_cases-patient1
15 yrs.
F
Intellectual disability
Note: this patient is reported in the DECIPHER database with ID#256835. Birth/neonatal history: uneventful pregnancy and delivery; birth weight 97th %ile, lenght >97th %ile, OFC 75th %ile. Developmental milestones: global developmental delay present from early childhood; independent walking at 3.5 years of age. Language and communication evaluation: vocabulary consisting of 20-30 words, no sentences, blurred articulation. Motor and musculoskeletal evaluation: unsteady broad-based gait with difficulties standing on one leg at a time, inability to jump on one or two legs; dyspraxia suggested by discrepance in performance between on-command and self-initiated tasks and language; normal muscle tone; pes planovalgus, short halluxes and apparently long 2nd toes bilaterally, shortening of 1st and 3rd-5th metcarpal bones of left hand and 1st and 5th metacarpal bones of right hand, bialteral short 1st metatarsal bones. Behavioral/psychiatric evaluation: hyperactive with short concentration span. Seizures/epilepsy: seizure-suspected syncope episodes from 13 years of age (normal EEG). Brain imaging: unspecific periventricular white matter changes detected on MRI at age 8 years. Sleep disturbances: sleeping difficulties. Other congenital anomalies: kyphosis. Dysmorphic features: broad forehead, frontal bossing, prominent supraorbital ridges, deep set eyes, hypotelorism, strabismus, infraorbital dark circles, midface hypoplasia, deep set nasal root, bulbous nasal tip, short philtrum, full lips, marked Cupid's bow, accentuated central depression in lower lip, prominent/pointed chin. Growth parameters: weight of 53.7 kg (50th %ile), height of 157.5 cm (10th %ile), and OFC of 54 cm (25th %ile) at 15 years of age. Family history: 2nd child to non-consanguineous healthy Norwegian parents.
Moderate intellectual disability (IQ 35-49). Testing with Reynell Developmental Language Scales and British Picture Vocabulary Scale at age 9 years, and Letier International Performance Scale-Revised (Leiter-R) at age 9 and 10 years, indicated mental age of 3-4 years, with expressive langauge <3 years.
13071692
17918353
4846662
GRCh38
Deletion
Yes
celestino-soper_12_DD/CHD_discovery_cases-patient6
3 yrs.
M
Developmental delay (DD)
Diagnosis of sensory processing disorder with developmental dyspraxia. Birth/neonatal history: no complications during pregnancy; born after an induced vaginal delivery due to maternal hypertension. Developmental milestones: global developmental and learning delays. Language and communication evaluation: speech problems; did not speak any words at time of evaluation; reported use of two signs, better receptive language than expressive language, usage of a lot of body language. Motor and musculoskeletal evaluation: hypotonia; fatigue; lack of coordination. Behavioral and psychiatric evalation: hyperactivity, easily distracted, destructive, wild. Epilepsy/seizures: history of febrile seizures. Other medical concerns or comorbidites: tracheostomy, heel cord release, history of G-tube (removed). Brain imaging: tiny frontal lobe hemorrhages on an MRI performed a few days after his birth; arachnoid cyst on CT. Cardiac evaluation: heart murmur, atrial septal defect, and bicuspid aortic valve. Recurrent infections: asthma and recurrent aspiration pneumonia. Hearing evaluation: mild hearing loss on Auditory Brainstem Response Evaluation. Dysmorphic features: stocky appearance, frontal upsweep, wide spaced and deep set eyes, broad forehead, mild micrognathia (status post tracheostomy), small thumbs, biparietal bossing, small ears, narrow alveolar archis, missing teeth, mandibular hypoplasia, a history of jaw distraction, eczema, possible submucous cleft palate, flared ribs, and bilateral clinodactyly. Family history: parental blood samples NA.
Global developmental and learning delays
12058581
20896495
8837915
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004865
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
13093117
22126024
9032908
GRCh38
Duplication
Yes
tzetis_12_DD/ID_discovery_cases-case18
M
DD/ID
Triangular face with pointed chin, low set ears, prominent forehead, short neck, micrognathia, microstomia, interventricular aortic stenosis
11935133
18573249
6638117
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
baroy_13_ID/ASD_discovery_cases-patient1
qPCR
De novo
Likely simplex
Possibly segregated
RNU1-11P,GFOD1-AS1,RPS4XP7,RN7SKP204,MRPL35P1,RNU7-133P,LINC01108,RNU6-793P,RN7SL332P,JARID2-AS1,RNU6-522P,RNU6-645P,ARPC3P5,LINC02543,MIR4639,MRPL42P2,RNU6-1114P,RPL7P26,SUMO2P13,FAM8A1,RNU6-190P,RNA5SP204,TBC1D7,SIRT5,MCUR1,RNF182,CD83,MYLIP,STMND1,RBM24,PHACTR1,GFOD1,JARID2,DTNBP1,GMPR,ATXN1,CAP2,NUP153,NOL7,RANBP9,KIF13A
celestino-soper_12_DD/CHD_discovery_cases-patient6
FISH
Unknown
Unknown
Unknown
EDN1,SUMO2P12,RN7SKP293,RPL15P3,LINC02530,RNU1-11P,GFOD1-AS1,RPS4XP7,RN7SKP204,MRPL35P1,RNU7-133P,LINC01108,RNU6-793P,RN7SL332P,JARID2-AS1,RNU6-522P,RNU6-645P,ARPC3P5,LINC02543,MIR4639,MRPL42P2,RNU6-1114P,RPL7P26,SUMO2P13,FAM8A1,RNU6-190P,RNA5SP204,RNU6-263P,DDX18P3,MIR548A1,RPL5P20,RNA5SP205,KRT18P38,UQCRFS1P3,RNU6-801P,ID4,RN7SL128P,E2F3-IT1,RNU6-141P,TBC1D7,SIRT5,MCUR1,RNF182,CD83,MYLIP,STMND1,RBM24,NHLRC1,TPMT,DEK,RNF144B,HIVEP1,PHACTR1,GFOD1,JARID2,DTNBP1,GMPR,ATXN1,CAP2,NUP153,KDM1B,MIR548A1HG,MBOAT1,E2F3,NOL7,RANBP9,KIF13A,CDKAL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004865
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNU1-11P,GFOD1-AS1,RPS4XP7,RN7SKP204,MRPL35P1,RNU7-133P,LINC01108,RNU6-793P,RN7SL332P,JARID2-AS1,RNU6-522P,RNU6-645P,ARPC3P5,LINC02543,MIR4639,MRPL42P2,RNU6-1114P,RPL7P26,SUMO2P13,FAM8A1,RNU6-190P,RNA5SP204,RNU6-263P,DDX18P3,MIR548A1,RPL5P20,RNA5SP205,KRT18P38,UQCRFS1P3,RNU6-801P,ID4,RN7SL128P,E2F3-IT1,RNU6-141P,RNU6-150P,BOLA2P3,TBC1D7,SIRT5,MCUR1,RNF182,CD83,MYLIP,STMND1,RBM24,NHLRC1,TPMT,DEK,RNF144B,SOX4,RN7SKP240,PHACTR1,GFOD1,JARID2,DTNBP1,GMPR,ATXN1,CAP2,NUP153,KDM1B,MIR548A1HG,MBOAT1,E2F3,LINC00581,NOL7,RANBP9,KIF13A,CDKAL1,CASC15
tzetis_12_DD/ID_discovery_cases-case18
Unknown
Unknown
EDN1,SUMO2P12,RN7SKP293,RPL15P3,LINC02530,RNU1-11P,GFOD1-AS1,RPS4XP7,RN7SKP204,MRPL35P1,RNU7-133P,LINC01108,RNU6-793P,RN7SL332P,JARID2-AS1,RNU6-522P,RNU6-645P,ARPC3P5,LINC02543,MIR4639,MRPL42P2,RNU6-1114P,RPL7P26,SUMO2P13,FAM8A1,RNU6-190P,RNA5SP204,RNU6-263P,DDX18P3,MIR548A1,TBC1D7,SIRT5,MCUR1,RNF182,CD83,MYLIP,STMND1,RBM24,NHLRC1,TPMT,DEK,RNF144B,HIVEP1,PHACTR1,GFOD1,JARID2,DTNBP1,GMPR,ATXN1,CAP2,NUP153,KDM1B,MIR548A1HG,NOL7,RANBP9,KIF13A
Controls
No Control Data Available
No Animal Model Data Available